A5010844025- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Mitochondrial Function and Pathology
- RNA regulation and disease
- Metabolism and Genetic Disorders
- RNA modifications and cancer
- Genomic variations and chromosomal abnormalities
- RNA and protein synthesis mechanisms
- Genetic Neurodegenerative Diseases
- RNA Research and Splicing
- MicroRNA in disease regulation
- Congenital heart defects research
- Cellular transport and secretion
- Glycosylation and Glycoproteins Research
- ATP Synthase and ATPases Research
- Epigenetics and DNA Methylation
- Immunodeficiency and Autoimmune Disorders
- Fetal and Pediatric Neurological Disorders
- Prenatal Screening and Diagnostics
- Cancer Genomics and Diagnostics
- Spondyloarthritis Studies and Treatments
- Hearing, Cochlea, Tinnitus, Genetics
- Cancer-related molecular mechanisms research
- Connexins and lens biology
- Neurological diseases and metabolism
Tarbiat Modares University
2016-2025
Tehran University of Medical Sciences
2021
California University of Pennsylvania
2021
Center for Human Genetics
2021
Isfahan University of Medical Sciences
2021
University of Pittsburgh
2021
Shahid Beheshti University of Medical Sciences
2021
Max Planck Institute for Molecular Genetics
2008-2020
Shanghai First Maternity and Infant Hospital
2020
Jiangmen Central Hospital
2020
Background Colorectal cancer (CRC) is with approximately 1 million cases the third most common worldwide. Extensive research ongoing to decipher underlying genetic patterns hope improve early diagnosis and treatment. In this direction, recent progress in next generation sequencing technologies has revolutionized field of genomics. However, one caveat these studies remains large amount variations identified their interpretation. Methodology/Principal Findings Here we present first work on...
We describe a consanguineous Iraqi family in which affected siblings had mild mental retardation and congenital ataxia characterized by quadrupedal gait. Genome-wide linkage analysis identified 5.8 Mb interval on chromosome 8q with shared homozygosity among the persons. Sequencing of genes contained revealed homozygous mutation, S100P, carbonic anhydrase related protein 8 (CA8), is highly expressed cerebellar Purkinje cells influences inositol triphosphate (ITP) binding to its receptor ITPR1...
<h3>Background</h3> Primary microcephaly (MCPH) is a genetically heterogeneous disorder showing an autosomal recessive mode of inheritance. Affected individuals present with head circumferences more than three SDs below the age- and sex-matched population mean, associated mild to severe mental retardation. Five genes (<i>MCPH1</i>, <i>CDK5RAP2</i>, <i>ASPM</i>, <i>CENPJ</i>, <i>STIL</i>) two genomic loci, MCPH2 MCPH4, have been identified so far. <h3>Methods results</h3> In this study, we...
Here we report a human intellectual disability disease locus on chromosome 14q31.3 corresponding to mutation of the ZC3H14 gene that encodes conserved polyadenosine RNA binding protein. We identify mRNA transcripts in central nervous system, and find rodent protein is expressed hippocampal neurons colocalizes with poly(A) neuronal cell bodies. A Drosophila melanogaster model this created by encoding ortholog dNab2, which also binds RNA, reveals dNab2 essential for development required normal...
High-throughput sequencing has greatly facilitated the elucidation of genetic disorders, but compared with X-linked and autosomal dominant diseases, search for defects underlying recessive diseases still lags behind. In a large consanguineous family intellectual disability (ARID), we have combined homozygosity mapping, targeted exon enrichment high-throughput to identify gene defect. After appropriate single-nucleotide polymorphism filtering, only two molecular changes remained, including...
Intellectual disability (ID) is the hallmark of an extremely heterogeneous group disorders that comprises a wide variety syndromic and non-syndromic phenotypes. Here, we report on mutations in two aminoacyl-tRNA synthetases are associated with ID unrelated Iranian families. In first family, identified homozygous missense mutation (c.514G>A, p.Asp172Asn) cytoplasmic seryl-tRNA synthetase (SARS) gene. The affects enzymatic core domain protein impairs its activity, probably leading to reduced...